Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.
Capri, Yline
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation. [electronic resource] - Human mutation Jul 2013 - 1018-25 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.22331 doi
Adolescent
Cell Line, Tumor
Cells, Cultured
Child
Child, Preschool
Fibroblasts--metabolism
Genetic Association Studies
Humans
Male
Monocarboxylic Acid Transporters--genetics
Mutation
Psychomotor Disorders--genetics
Severity of Illness Index
Symporters
Thyroid Hormones--metabolism
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation. [electronic resource] - Human mutation Jul 2013 - 1018-25 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.22331 doi
Adolescent
Cell Line, Tumor
Cells, Cultured
Child
Child, Preschool
Fibroblasts--metabolism
Genetic Association Studies
Humans
Male
Monocarboxylic Acid Transporters--genetics
Mutation
Psychomotor Disorders--genetics
Severity of Illness Index
Symporters
Thyroid Hormones--metabolism